Sengers Syndrome is a rare mitochondrial disorder. Its manifestations may be present at or soon after birth.

Chromosome: 7q34

Gene: acylglycerol kinase (AGK)


Acylglycerol kinase is a mitochondrial membrane protein and a subunit of the TIM22 protein import complex. It is involved in glycolipid and lipid metabolism and catalyzes the formation of lysophosphatidic and phosphatidic acids.


Inheritance: autosomal recessive


Clinical features include:

(1) hypertrophic cardiomyopathy

(2) congenital cataracts

(4) skeletal myopathy with exercise intolerance

(5) lactic acidosis

(6) normal mental development

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